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Page 4 of 13 Padilla et al. Rare Dis Orphan Drugs J 2023;2:27 https://dx.doi.org/10.20517/rdodj.2023.38
under a case payment scheme for reimbursement at a fixed price of PhP500 . The NBS fee subsequently
[19]
increased in 2018 to PhP1,750 following the expansion of the screening panel to include 21 additional
congenital disorders .
[20]
Figure 2 provides a schematic diagram showing the basic flow of the Philippine NBS system. Education
about NBS is done either prenatally, as part of parent education, or just before the collection of the
screening specimen. In compliance with the law, the parent/guardian is informed about NBS and given the
opportunity to dissent. NBS by heelprick is performed after 24 hours following the birth at a Newborn
Screening Facility (NSF-hospital or birthing center) by a healthcare professional trained in collecting
heelstick blood. Specimens are submitted to a regional Newborn Screening Center (NSC-screening
laboratory). A short-term follow-up team (pediatrician and/or nurse) from the NSC informs the NSF of
screen-positive patients and NBS coordinators at the NSFs track/recall patients needing confirmatory
testing. Diagnosed patients are referred for long-term follow-up to the NBS Continuity Clinics (see below).
A database of diagnosed patients is kept at each NSC and the Newborn Screening Reference Center (NSRC-
national NBS oversight center). Residual specimens remaining after NBS are retained indefinitely.

Figure 2. Philippine newborn screening system flow.

As shown in Figure 1, the PNBSP slowly grew and developed from a 5-condition panel in 1996 to a 29-
condition panel today and from a single laboratory to nine by the end of 2024. Data have been periodically
evaluated to determine whether the screening panel was appropriate, and adjustments have been made
when and where possible. Based on clinical data, MSUD was added in 2012. In the Implementing Rules and
Regulations of the NBS law , a National Technical Working Group on Newborn Screening periodically
[21]
reviews and recommends to the DOH Advisory Committee on Newborn Screening regarding the addition
or removal of conditions to the NBS panel. While considering the design of a pilot study for possible NBS
expansion, data from the California (CA) NBS program were analyzed because of their large immigrant
Filipino population. A detailed review of the expanded NBS data from CA provided sufficient case findings
in a large enough Filipino population to serve as a surrogate pilot study. The reviewed NBS conditions in
CA were those consistent with the U.S. Recommended Uniform Screening Panel (RUSP). In 2014, based on
the NBS data from CA and with sufficient program savings to purchase MS/MS and other necessary
equipment, the PNBSP screening panel was increased to include 21 additional conditions. This expanded
NBS panel was made available as an option to parents at a break-even fee. Significant local case findings led
to the addition of ASA to the screening panel in 2018, and in 2019, with increased insurance
reimbursement, ENBS for 29 total screening conditions was made permanent. The screening panel
currently includes the conditions shown in Table 1 . From a coverage of less than 1% in 1996, coverage
[22]